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  2. Hand and foot malformations
  3. ADAMTS10
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Hand and foot malformations

Gene: ADAMTS10

Green List (high evidence)
ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)
EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mild intellectual disability is described in around 10% of affected individuals.
Sources: Expert list
Created: 23 Nov 2019, 4:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome 1, recessive, MIM#277600

Created: 23 Nov 2019, 4:46 a.m.

Panel version: Imported from Mendeliome panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, 277600
OMIM
608990
Clinvar variants
Variants in ADAMTS10
Penetrance
None
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ADAMTS10 was added gene: ADAMTS10 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, 277600